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Cystathioninuria

Known as: High urine cystathionine levels 
An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased… 
National Institutes of Health

Related topics

Related topics

8 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsEnzyme Deficiency
Autosomal recessive inheritanceCTH, 1-BP DEL, 1220CCTH, GLN240GLUCystathionase Deficiency

Papers overview

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1975
1975
Vitamin B6-responsive and -unresponsive cystathioninuria: two variant molecular forms
Cystathionase activity in a lymphoid cell line extracts from a vitamin B6-responsive patient with cystathioninuria was increased… 
1970
1970
Epithelial hepatoblastoma associated with congenital hemihypertrophy and cystathioninuria: presentation of a case.
A 13-month-old boy with hepatoblastoma and hemihypertrophy is presented; this is the fifth known case with this association… 
1968
1968
Cystathioninuria in patients with neuroblastoma or ganglioneuroblastoma. Its correlation to vanilmandelic acid excretion and its value in diagnosis and therapy
Cystathionine is not normally present in urine and only a few cases of congenital cystathioninuria are known. Cystathioninuria… 
1968
1968
Cystathioninuria not associated with vitamin B6 dependency: a probably new type of cystathioninuria.
An infantile case of cystathioninuria was described. The patient had retarded development and marked cystathioninuria. Large… 
1968
1968
Cystathioninuria in Two Healthy Siblings
Abstract Tests in two siblings with cystathioninuria indicated that the disorder is congenital and not secondary. Yet both… 
1968
1968
Cystathioninuria and renal iminoglycinuria in a pedigree.
Abstract Cystathioninuria and hyperglycinuria both occurred in a male Ashkenazi-Jewish Infant. Both traits were dominantly… 
1967
1967
Concurrence of cystathioninuria, nephrogenic diabetes insipidus and severe anemia.
CONGENITAL cystathioninuria was first described by Harris et al.1 in 1959, and since then only 3 additional cases of this unusual… 
1966
1966
Cystatbioninuria: study of an infant with normal mentality, thrombocytopenia, and renal calculi.
1966
1966
Deficiencies of cystathionase and homoserine dehydratase activities in cystathioninuria.
17 Georgiev, G. P., 0. P. Samarina, M. I. Lerman, M. N. Smirnov, and A. N. Severtzov, Nature, 200, 1291 (1963). 8Greenman, D. L… 
Highly Cited
1965
Highly Cited
1965
HOMOCYSTINURIA. BIOCHEMICAL STUDIES OF TISSUES INCLUDING A COMPARISON WITH CYSTATHIONINURIA.
From a series of studies on autopsy brains, the concentration of cystathionine has been found to vary in different areas. In the… 
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